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Revised timeline and distribution of the earliest diverged human maternal lineages in southern Africa


The oldest extant human maternal lineages include mitochondrial haplogroups L0d and L0k found in the southern African click-speaking forager peoples broadly classified as Khoesan. Profiling these early mitochondrial lineages allows for better understanding of modern human evolution. In this study, we profile 77 new early-diverged complete mitochondrial genomes and sub-classify another 105 L0d/L0k individuals from southern Africa. We use this data to refine basal phylogenetic divergence, coalescence times and Khoesan prehistory. Our results confirm L0d as the earliest diverged lineage ( approximately 172 kya, 95%CI: 149-199 kya), followed by L0k ( approximately 159 kya, 95%CI: 136-183 kya) and a new lineage we name L0g ( approximately 94 kya, 95%CI: 72-116 kya). We identify two new L0d1 subclades we name L0d1d and L0d1c4/L0d1e, and estimate L0d2 and L0d1 divergence at approximately 93 kya (95%CI:76-112 kya). We concur the earliest emerging L0d1'2 sublineage L0d1b ( approximately 49 kya, 95%CI:37-58 kya) is widely distributed across southern Africa. Concomitantly, we find the most recent sublineage L0d2a ( approximately 17 kya, 95%CI:10-27 kya) to be equally common. While we agree that lineages L0d1c and L0k1a are restricted to contemporary inland Khoesan populations, our observed predominance of L0d2a and L0d1a in non-Khoesan populations suggests a once independent coastal Khoesan prehistory. The distribution of early-diverged human maternal lineages within contemporary southern Africans suggests a rich history of human existence prior to any archaeological evidence of migration into the region. For the first time, we provide a genetic-based evidence for significant modern human evolution in southern Africa at the time of the Last Glacial Maximum at between approximately 21-17 kya, coinciding with the emergence of major lineages L0d1a, L0d2b, L0d2d and L0d2a.

Type Journal
ISBN 1932-6203 (Electronic) 1932-6203 (Linking)
Authors Chan, E. K.?; Hardie, R. A.?; Petersen, D. C.?; Beeson, K.?; Bornman, R. M.?; Smith, A. B.?; Hayes, V. M.;
Garvan Authors Dr Eva Chan
Publisher Name PLoS ONE
Published Date 2015-01-01 00:00:00
Published Volume 10
Published Issue 3
Published Pages e0121223
Status Published in-print